Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut KIAA1751 85452 broad.mit.edu 37 1 1896456 1896456 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:1896456C>G uc001aim.1 - 13 1602 c.1446G>C c.(1444-1446)AAG>AAC p.K482N KIAA1751_uc009vkz.1_Missense_Mutation_p.K482N NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 482 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CCTTGTCCATCTTTGTCCCGC 0.672 NA 3 20 0 0 0 0 C1orf127 148345 broad.mit.edu 37 1 11017770 11017770 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:11017770G>A uc010oao.1 - 3 154 c.149C>T c.(148-150)TCT>TTT p.S50F C1orf127_uc001arr.1_Missense_Mutation_p.S50F|C1orf127_uc001ars.1_Missense_Mutation_p.S50F NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 50 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GTCTTCAAGAGAAGCCACCAG 0.577 NA 13 106 0 0 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887265 12887265 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:12887265C>T uc001auk.2 - 3 788 c.592G>A c.(592-594)GTT>ATT p.V198I NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 198 LRR 1. 0 TGGGAGAGAACGAGCTTCTGA 0.517 NA 12 458 0 0 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632584 19632584 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:19632584G>A uc001bbw.2 - 6 868 c.846C>T c.(844-846)GCC>GCT p.A282A AKR7A2_uc001bbx.2_Silent_p.A247A NM_003689 NP_003680 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 282 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGCCATATGCGGCCTGCAGGG 0.632 NA 10 66 0 0 0 0 NBPF3 84224 broad.mit.edu 37 1 21800026 21800026 + Silent SNP C C T rs138236134 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:21800026C>T uc001ber.2 + 7 1238 c.888C>T c.(886-888)CTC>CTT p.L296L NBPF3_uc001bes.2_Silent_p.L240L|NBPF3_uc009vqb.2_Silent_p.L296L|NBPF3_uc010odm.1_Silent_p.L226L NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 296 NBPF 1. cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACTCAACTCTCATTGACTCAT 0.463 NA 31 222 0 0 0 0 GPR3 2827 broad.mit.edu 37 1 27721255 27721255 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:27721255C>T uc001bod.2 + 2 1048 c.953C>T c.(952-954)TCC>TTC p.S318F NM_005281 NP_005272 P46089 GPR3_HUMAN G protein-coupled receptor 3 318 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane ovary(1) 1 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) TGTTCCTCTTCCAAGATCCCC 0.527 NA 26 156 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045932 42045932 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:42045932G>A uc001cgz.3 - 4 5750 c.4537C>T c.(4537-4539)CCT>TCT p.P1513S HIVEP3_uc001cha.3_Missense_Mutation_p.P1513S|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1513 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGAGGGGAGGAATTTCCTTT 0.557 NA 6 57 0 0 0 0 IPO13 9670 broad.mit.edu 37 1 44424510 44424510 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:44424510T>C uc001ckx.2 + 11 2772 c.1977T>C c.(1975-1977)GAT>GAC p.D659D NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 659 HEAT 11. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ATGAGGATGATCATGAAGGCC 0.562 NA 11 78 0 0 0 0 ZNF644 84146 broad.mit.edu 37 1 91404992 91404992 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:91404992G>C uc001dnw.2 - 3 2061 c.1919C>G c.(1918-1920)ACT>AGT p.T640S ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T640S NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TAATGTTTTAGTGCTATCACT 0.348 NA 3 112 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103455092 103455092 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:103455092C>G uc001dul.2 - 29 2694 c.2376G>C c.(2374-2376)ATG>ATC p.M792I COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.M804I|COL11A1_uc001dun.2_Missense_Mutation_p.M753I|COL11A1_uc009weh.2_Missense_Mutation_p.M676I NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 792 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTTTAGACCCATGTCACCTT 0.289 NA 4 55 0 0 0 0 PSRC1 84722 broad.mit.edu 37 1 109824269 109824269 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:109824269G>C uc001dxg.2 - 4 613 c.491C>G c.(490-492)TCT>TGT p.S164C PSRC1_uc001dxb.2_Translation_Start_Site|PSRC1_uc001dxc.2_Missense_Mutation_p.S164C|PSRC1_uc001dxd.2_Missense_Mutation_p.S164C|PSRC1_uc001dxe.2_Missense_Mutation_p.S164C|PSRC1_uc001dxf.2_Missense_Mutation_p.S164C|PSRC1_uc001dxh.2_Missense_Mutation_p.S164C|PSRC1_uc001dxi.2_Missense_Mutation_p.S164C|PSRC1_uc001dxj.2_Missense_Mutation_p.S164C NM_001032290 NP_001027461 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 isoform c 164 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding 0 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) CCTCTTTCCAGATGTAGCCCG 0.562 NA 18 84 0 0 0 0 MOV10 4343 broad.mit.edu 37 1 113238852 113238852 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:113238852C>T uc001eck.2 + 12 2132 c.1862C>T c.(1861-1863)ACC>ATC p.T621I MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.T621I|MOV10_uc001ecm.2_Missense_Mutation_p.T561I|MOV10_uc009wgj.1_Missense_Mutation_p.T561I NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 621 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTCTTAATTACCACCCTCATC 0.532 NA 5 52 0 0 0 0 NBPF9 400818 broad.mit.edu 37 1 144816648 144816648 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:144816648G>C uc009wig.1 + 13 1631 c.1555G>C c.(1555-1557)GAA>CAA p.E519Q NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E519Q|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Missense_Mutation_p.E248Q|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.E179Q NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 519 NBPF 2. cytoplasm 0 CTCTCATGTTGAACGGGAAGA 0.458 NA 39 275 0 0 0 0 CTSS 1520 broad.mit.edu 37 1 150722557 150722557 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:150722557C>T uc001evn.2 - 6 851 c.718G>A c.(718-720)GAA>AAA p.E240K CTSS_uc010pcj.1_Missense_Mutation_p.E190K|CTSS_uc001evo.1_Missense_Mutation_p.E240K NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 240 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GCCACAGCTTCTTTCAGGACA 0.393 NA 8 29 0 0 0 0 FLAD1 80308 broad.mit.edu 37 1 154956218 154956218 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:154956218G>C uc001fgf.1 + 1 402 c.48G>C c.(46-48)AGG>AGC p.R16S FLAD1_uc001fgc.2_Intron|FLAD1_uc001fgd.1_Missense_Mutation_p.R16S|FLAD1_uc001fge.1_Intron|FLAD1_uc001fgg.1_Intron NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 16 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGGAACAAAGGAGTCGCTTGT 0.478 NA 4 75 0 0 0 0 RUSC1 23623 broad.mit.edu 37 1 155296505 155296505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:155296505G>C uc001fkj.2 + 8 2225 c.1996G>C c.(1996-1998)GAG>CAG p.E666Q RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.E197Q|RUSC1_uc001fkl.2_Missense_Mutation_p.E256Q|RUSC1_uc001fkp.2_Missense_Mutation_p.E197Q|RUSC1_uc001fkq.2_Intron|RUSC1_uc010pgb.1_Missense_Mutation_p.E164Q|RUSC1_uc009wqp.1_Missense_Mutation_p.E191Q|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Missense_Mutation_p.E197Q|RUSC1_uc001fks.2_5'UTR NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 666 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CCTGCTCTTTGAGCACCACCA 0.642 NA 22 89 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157556033 157556033 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:157556033C>A uc001fqw.2 - 6 1196 c.1060G>T c.(1060-1062)GCA>TCA p.A354S FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 354 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TATCCCCCTGCATGGCTCTGT 0.537 NA 5 106 3.6e-05 6.2e-05 1 0 MNDA 4332 broad.mit.edu 37 1 158817562 158817562 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:158817562T>C uc001fsz.1 + 6 1232 c.1032T>C c.(1030-1032)AAT>AAC p.N344N NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 344 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TACAGGATAATACAGGATCCA 0.378 NA 12 73 0 0 0 0 ABL2 27 broad.mit.edu 37 1 179077353 179077353 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:179077353C>G uc001gmj.3 - 12 3336 c.3049G>C c.(3049-3051)GAA>CAA p.E1017Q ABL2_uc010pnf.1_Missense_Mutation_p.E914Q|ABL2_uc010png.1_Missense_Mutation_p.E893Q|ABL2_uc010pnh.1_Missense_Mutation_p.E996Q|ABL2_uc001gmg.3_Missense_Mutation_p.E899Q|ABL2_uc001gmi.3_Missense_Mutation_p.E1002Q|ABL2_uc001gmh.3_Missense_Mutation_p.E981Q|ABL2_uc010pne.1_Missense_Mutation_p.E878Q NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 1017 Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCCTGTGTTTCTGATGTGGAC 0.587 NA T ETV6 AML 19 119 0 0 0 0 ZNF281 23528 broad.mit.edu 37 1 200376835 200376835 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:200376835C>G uc001gve.2 - 2 2106 c.1999G>C c.(1999-2001)GAA>CAA p.E667Q ZNF281_uc001gvf.1_Missense_Mutation_p.E667Q|ZNF281_uc001gvg.1_Missense_Mutation_p.E631Q NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 667 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 TTGGAGTATTCTTGCAACATA 0.403 NA 8 91 0 0 0 0 ZNF281 23528 broad.mit.edu 37 1 200377024 200377024 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:200377024C>A uc001gve.2 - 2 1917 c.1810G>T c.(1810-1812)GAT>TAT p.D604Y ZNF281_uc001gvf.1_Missense_Mutation_p.D604Y|ZNF281_uc001gvg.1_Missense_Mutation_p.D568Y NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 604 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 AAAACCTCATCAGGAATTCCA 0.388 NA 7 52 2.77e-08 4.92e-08 1 0 PPP1R15B 84919 broad.mit.edu 37 1 204378784 204378784 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:204378784G>A uc001hav.3 - 1 2161 c.1756C>T c.(1756-1758)CGT>TGT p.R586C NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 586 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TTTGAGTCACGACAGCCTTTC 0.438 NA 4 54 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215823958 215823958 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:215823958G>A uc001hku.1 - 65 14706 c.14319C>T c.(14317-14319)AGC>AGT p.S4773S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4773 Fibronectin type-III 33.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATGGGCGCTGCTGGAGAACA 0.493 NA HNSCC(13;0.011) 15 88 0 0 0 0 TP53BP2 7159 broad.mit.edu 37 1 223987709 223987709 + Missense_Mutation SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:223987709T>A uc010pvb.1 - 11 1669 c.1377A>T c.(1375-1377)AAA>AAT p.K459N TP53BP2_uc001hod.2_Missense_Mutation_p.K330N|TP53BP2_uc010puz.1_Translation_Start_Site|TP53BP2_uc010pva.1_Missense_Mutation_p.K98N NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 453 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) ACGGACGCACTTTCTTCTCTT 0.428 NA 5 51 0 0 0 0 GPR158 57512 broad.mit.edu 37 10 25701358 25701358 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:25701358G>A uc001isj.2 + 4 1351 c.1291G>A c.(1291-1293)GAC>AAC p.D431N NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 431 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TATGCTGCTCGACTTCGTTAG 0.488 NA 8 175 0 0 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089160 43089160 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:43089160T>C uc001jaf.1 - 5 1353 c.1238A>G c.(1237-1239)TAT>TGT p.Y413C ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.Y301C|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 413 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATTACACTGATAGGGTTTCTC 0.423 NA 3 105 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55955577 55955577 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:55955577G>C uc001jju.1 - 11 1566 c.1171C>G c.(1171-1173)CAA>GAA p.Q391E PCDH15_uc010qhq.1_Missense_Mutation_p.Q396E|PCDH15_uc010qhr.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhs.1_Missense_Mutation_p.Q396E|PCDH15_uc010qht.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhu.1_Missense_Mutation_p.Q391E|PCDH15_uc001jjv.1_Missense_Mutation_p.Q369E|PCDH15_uc010qhv.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q354E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q396E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q391E|PCDH15_uc010qia.1_Missense_Mutation_p.Q369E|PCDH15_uc010qib.1_Missense_Mutation_p.Q369E|PCDH15_uc001jjw.2_Missense_Mutation_p.Q391E NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 391 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TATGGACTTTGATTGTTTTCA 0.393 NA HNSCC(58;0.16) 6 47 0 0 0 0 ZWINT 11130 broad.mit.edu 37 10 58118574 58118574 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:58118574C>G uc001jjx.1 - 6 652 c.615G>C c.(613-615)AAG>AAC p.K205N ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.K205N|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 205 Potential. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 ACCTCTGCAGCTTGTCCCGCT 0.517 NA 20 138 0 0 0 0 DLG5 9231 broad.mit.edu 37 10 79570931 79570931 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:79570931C>G uc001jzk.2 - 23 4454 c.4384G>C c.(4384-4386)GAG>CAG p.E1462Q DLG5_uc001jzi.2_Missense_Mutation_p.E217Q|DLG5_uc001jzj.2_Missense_Mutation_p.E877Q|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1462 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GATGGATGCTCCGGGGTGGTG 0.637 NA 14 79 0 0 0 0 GRID1 2894 broad.mit.edu 37 10 87966143 87966143 + Silent SNP G G T rs61744114 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:87966143G>T uc001kdl.1 - 3 599 c.498C>A c.(496-498)GTC>GTA p.V166V GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 166 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CGTAGAACATGACGAACTTCT 0.622 NA Multiple Myeloma(13;0.14) 11 39 3.04e-14 5.49e-14 1 0 SEC31B 25956 broad.mit.edu 37 10 102249138 102249138 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:102249138C>T uc001krc.1 - 23 3144 c.3042G>A c.(3040-3042)ATG>ATA p.M1014I SEC31B_uc010qpo.1_Missense_Mutation_p.M1013I|SEC31B_uc001krd.1_Missense_Mutation_p.M551I|SEC31B_uc001krf.1_Missense_Mutation_p.M446I|SEC31B_uc001kre.1_Missense_Mutation_p.M446I NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 1014 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTGCTGGGGGCATAAATGTCT 0.527 NA 9 43 0 0 0 0 STK33 65975 broad.mit.edu 37 11 8414087 8414087 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:8414087G>A uc001mgi.1 - 12 2434 c.1515C>T c.(1513-1515)GGC>GGT p.G505G STK33_uc001mgj.1_Silent_p.G505G|STK33_uc001mgk.1_Silent_p.G505G|STK33_uc010rbn.1_Silent_p.G464G|STK33_uc001mgl.3_Silent_p.G318G NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 505 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TGGACAGGGCGCCGGATTTAG 0.483 NA 34 201 0 0 0 0 RAG1 5896 broad.mit.edu 37 11 36597850 36597850 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:36597850C>G uc001mwu.3 + 2 3120 c.2996C>G c.(2995-2997)TCC>TGC p.S999C RAG1_uc001mwt.2_Intron NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 999 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TTGTACACCTCCAAATACCTC 0.448 NA Familial_Hemophagocytic_Lymphohistiocytosis 14 73 0 0 0 0 OR5F1 338674 broad.mit.edu 37 11 55761664 55761664 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:55761664G>A uc010riv.1 - 1 438 c.438C>T c.(436-438)GCC>GCT p.A146A NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CAAAAGCCCCGGCTGCCATTT 0.502 NA 7 53 0 0 0 0 FAM111B 374393 broad.mit.edu 37 11 58891901 58891901 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:58891901C>T uc001nnl.2 + 4 574 c.331C>T c.(331-333)CTG>TTG p.L111L FAM111B_uc001nnm.2_Silent_p.L81L|FAM111B_uc010rko.1_Silent_p.L81L NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 111 catalytic activity ovary(2) 2 CTACTCAGCCCTGAGTGCTAA 0.343 NA 9 48 0 0 0 0 OR4D6 219983 broad.mit.edu 37 11 59224763 59224763 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:59224763A>G uc010rku.1 + 1 330 c.330A>G c.(328-330)GCA>GCG p.A110A NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGGTGGGGCAGATATTTTTT 0.488 NA 23 163 0 0 0 0 CPSF7 79869 broad.mit.edu 37 11 61196678 61196678 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:61196678T>C uc001nrq.2 - 2 164 c.30A>G c.(28-30)ATA>ATG p.I10M SDHAF2_uc001nrt.2_5'Flank|CPSF7_uc001nro.2_Missense_Mutation_p.I10M|CPSF7_uc001nrp.2_Missense_Mutation_p.I53M|CPSF7_uc001nrr.2_Missense_Mutation_p.I10M|CPSF7_uc001nrs.1_Translation_Start_Site|CPSF7_uc009ynp.2_Missense_Mutation_p.I10M NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 10 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 CGTCAGCATATATATCAATCA 0.483 NA 30 162 0 0 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61957758 61957758 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:61957758T>C uc001nsz.1 + 1 49 c.2T>C c.(1-3)ATG>ACG p.M1T NM_006552 NP_006543 O95968 SG1D1_HUMAN lipophilin A precursor 1 extracellular space binding skin(1) 1 TAAGCCACCATGAGGCTGTCG 0.577 NA 3 57 0 0 0 0 NAALADL1 10004 broad.mit.edu 37 11 64813736 64813736 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:64813736C>T uc001ocn.2 - 15 1796 c.1780G>A c.(1780-1782)GAG>AAG p.E594K NAALADL1_uc010rnw.1_Missense_Mutation_p.E70K|NAALADL1_uc009ypz.2_RNA NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 594 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CGGAGTGTCTCACTGTAGTCA 0.612 NA 12 50 0 0 0 0 ALDH3B2 222 broad.mit.edu 37 11 67431887 67431887 + Missense_Mutation SNP C C T rs147016371 byFrequency TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:67431887C>T uc001omr.2 - 8 1292 c.853G>A c.(853-855)GCC>ACC p.A285T ALDH3B2_uc001oms.2_Missense_Mutation_p.A285T|ALDH3B2_uc009ysa.1_Missense_Mutation_p.A285T NM_000695 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3B2 285 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase lung(1)|kidney(1) 2 NADH(DB00157) TTGGAGAAGGCGTACAGGGCC 0.637 NA 15 124 0 0 0 0 ETS1 2113 broad.mit.edu 37 11 128359290 128359290 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:128359290T>C uc010sbs.1 - 3 614 c.298A>G c.(298-300)ATG>GTG p.M100V ETS1_uc001qej.2_Missense_Mutation_p.M144V|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.M100V NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 100 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GCTCCATTCATACAGAACTTC 0.532 NA 18 139 0 0 0 0 NTM 50863 broad.mit.edu 37 11 132016253 132016253 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:132016253G>A uc001qgp.2 + 2 909 c.245G>A c.(244-246)TGG>TAG p.W82* NTM_uc001qgm.2_Nonsense_Mutation_p.W82*|NTM_uc010sch.1_Nonsense_Mutation_p.W73*|NTM_uc010sci.1_Nonsense_Mutation_p.W82*|NTM_uc010scj.1_Nonsense_Mutation_p.W41*|NTM_uc001qgo.2_Nonsense_Mutation_p.W82*|NTM_uc001qgq.2_Nonsense_Mutation_p.W82* NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 82 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 AATGACAAGTGGTGCCTGGAT 0.567 NA 14 61 0 0 0 0 HDAC7 51564 broad.mit.edu 37 12 48188581 48188581 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:48188581C>T uc010slo.1 - 12 1615 c.1420G>A c.(1420-1422)GAG>AAG p.E474K HDAC7_uc009zku.2_5'Flank|HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Missense_Mutation_p.E437K|HDAC7_uc001rqk.3_Missense_Mutation_p.E457K NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 435 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) CCTCTGGCCTCAGGCTGCCCA 0.657 NA 11 68 0 0 0 0 C12orf54 121273 broad.mit.edu 37 12 48888620 48888620 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:48888620G>A uc001rrr.2 + 7 339 c.282G>A c.(280-282)TTG>TTA p.L94L C12orf54_uc009zky.1_RNA NM_152319 NP_689532 Q6X4T0 CL054_HUMAN hypothetical protein LOC121273 94 0 CCCCAAAGTTGAGAAGATTGC 0.483 NA 11 120 0 0 0 0 ADCY6 112 broad.mit.edu 37 12 49165584 49165584 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:49165584T>C uc001rsh.3 - 18 3620 c.2960A>G c.(2959-2961)AAC>AGC p.N987S ADCY6_uc001rsj.3_Missense_Mutation_p.N987S|ADCY6_uc001rsi.3_Missense_Mutation_p.N934S|ADCY6_uc010slw.1_Missense_Mutation_p.N218S NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 987 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CTCAGAGAAGTTGGCAATGGA 0.537 NA 9 56 0 0 0 0 ACVRL1 94 broad.mit.edu 37 12 52309043 52309043 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:52309043G>A uc001rzj.2 + 7 1090 c.807G>A c.(805-807)TCG>TCA p.S269S ACVRL1_uc001rzk.2_Silent_p.S269S|ACVRL1_uc010snm.1_Silent_p.S95S NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 269 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCCGCAACTCGAGCACGCAGC 0.493 NA Hereditary_Hemorrhagic_Telangiectasia 9 68 0 0 0 0 CCT2 10576 broad.mit.edu 37 12 69987352 69987352 + Missense_Mutation SNP A A T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:69987352A>T uc001svb.1 + 10 1035 c.941A>T c.(940-942)CAT>CTT p.H314L CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.H314L|CCT2_uc010stl.1_Missense_Mutation_p.H267L NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 314 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCTATTGAGCATGCAGATTTT 0.318 NA 9 45 0 0 0 0 FGD6 55785 broad.mit.edu 37 12 95603436 95603436 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:95603436G>A uc001tdp.3 - 2 1848 c.1624C>T c.(1624-1626)CAG>TAG p.Q542* FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 542 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CACAAATGCTGAAGGTGATTT 0.423 NA 10 89 0 0 0 0 CRY1 1407 broad.mit.edu 37 12 107415889 107415889 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:107415889T>C uc001tmi.3 - 2 1099 c.240A>G c.(238-240)CCA>CCG p.P80P NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 80 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 ACACATCTGCTGGTTGTCCAC 0.323 NA 22 127 0 0 0 0 RSRC2 65117 broad.mit.edu 37 12 122991393 122991393 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:122991393C>T uc001ucr.2 - 9 1259 c.1113G>A c.(1111-1113)TTG>TTA p.L371L RSRC2_uc001uco.2_Silent_p.L140L|RSRC2_uc001ucp.2_Silent_p.L312L|RSRC2_uc001ucq.2_Silent_p.L139L|RSRC2_uc001ucs.2_Silent_p.L140L|RSRC2_uc001uct.2_Silent_p.L323L|RSRC2_uc001ucu.2_Silent_p.L372L NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 371 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TAATACCCATCAATTTCCTAA 0.289 NA 12 116 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124832798 124832798 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:124832798C>T uc010tba.1 - 29 4048 c.3931G>A c.(3931-3933)GAG>AAG p.E1311K NCOR2_uc010tay.1_Missense_Mutation_p.E1310K|NCOR2_uc010taz.1_Missense_Mutation_p.E1294K|NCOR2_uc010tbb.1_Missense_Mutation_p.E1303K|NCOR2_uc010tbc.1_Missense_Mutation_p.E1293K|NCOR2_uc001ugj.1_Missense_Mutation_p.E1311K NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1311 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGGCCGTCTCATGGGGGGGT 0.622 NA OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 61 0 0 0 0 BRCA2 675 broad.mit.edu 37 13 32972546 32972546 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr13:32972546A>G uc001uub.1 + 27 10123 c.9896A>G c.(9895-9897)CAG>CGG p.Q3299R NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3299 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGGCATTTCAGCCACCAAGG 0.398 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 3 93 0 0 0 0 NEK3 4752 broad.mit.edu 37 13 52709904 52709904 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr13:52709904G>C uc001vgi.2 - 16 1505 c.1270C>G c.(1270-1272)CTC>GTC p.L424V NEK3_uc001vgg.2_Missense_Mutation_p.L401V|NEK3_uc001vgh.2_Missense_Mutation_p.L428V|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.L407V NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a 424 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) GCCAAGCTGAGATCAGCATTC 0.358 NA 7 39 0 0 0 0 ZIC5 85416 broad.mit.edu 37 13 100617654 100617654 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr13:100617654C>T uc001vom.1 - 2 2218 c.1969G>A c.(1969-1971)GAA>AAA p.E657K NM_033132 NP_149123 Q96T25 ZIC5_HUMAN zinc finger protein of the cerebellum 5 657 cell differentiation nucleus DNA binding|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGCACAACTTCAGGGTTCCCG 0.478 NA 13 69 0 0 0 0 OR4K15 81127 broad.mit.edu 37 14 20443780 20443780 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:20443780G>A uc010tkx.1 + 1 103 c.103G>A c.(103-105)GAA>AAA p.E35K NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 35 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TCGGGTGACAGAATTTGTGTT 0.398 NA 12 101 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64564717 64564717 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:64564717A>G uc001xgm.2 + 62 12389 c.12159A>G c.(12157-12159)AAA>AAG p.K4053K SYNE2_uc001xgl.2_Silent_p.K4053K|SYNE2_uc010apy.2_Silent_p.K438K|SYNE2_uc010apx.1_Silent_p.K445K|MIR548H-1_hsa-mir-548h-1|MI0006411_5'Flank|SYNE2_uc010apz.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4053 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCAGAGAAAAGAAGACCTGT 0.448 NA 11 81 0 0 0 0 CEP152 22995 broad.mit.edu 37 15 49054667 49054667 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:49054667T>C uc001zwy.2 - 18 2517 c.2483A>G c.(2482-2484)AAG>AGG p.K828R CEP152_uc001zwz.2_Missense_Mutation_p.K828R|CEP152_uc001zxa.1_Missense_Mutation_p.K735R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 828 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GGCTATGTCCTTCTCTTGTTC 0.373 NA 40 70 0 0 0 0 PIGB 9488 broad.mit.edu 37 15 55622047 55622047 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:55622047G>A uc002act.2 + 5 964 c.648G>A c.(646-648)ATG>ATA p.M216I PIGB_uc010ugg.1_Missense_Mutation_p.M21I NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 216 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) CAAAGTCTATGAACAGGTAAG 0.308 NA 23 53 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62256970 62256970 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:62256970G>C uc002agz.2 - 31 3216 c.3142C>G c.(3142-3144)CAA>GAA p.Q1048E VPS13C_uc002aha.2_Missense_Mutation_p.Q1005E|VPS13C_uc002ahb.1_Missense_Mutation_p.Q1048E|VPS13C_uc002ahc.1_Missense_Mutation_p.Q1005E NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1048 protein localization ovary(2) 2 CTTATGCTTTGATCATCAGAT 0.328 NA 22 57 0 0 0 0 HCN4 10021 broad.mit.edu 37 15 73614875 73614875 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:73614875C>T uc002avp.2 - 8 4553 c.3559G>A c.(3559-3561)GAA>AAA p.E1187K NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 1187 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GCCCCAGGTTCCCTCTGGGGT 0.493 NA 5 15 0 0 0 0 TSC2 7249 broad.mit.edu 37 16 2098710 2098710 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:2098710G>C uc002con.2 + 2 200 c.94G>C c.(94-96)GAG>CAG p.E32Q NTHL1_uc002col.1_5'Flank|NTHL1_uc002com.1_5'Flank|TSC2_uc010uvu.1_Missense_Mutation_p.E32Q|TSC2_uc010bsd.2_Missense_Mutation_p.E32Q|TSC2_uc002coo.2_Missense_Mutation_p.E32Q|TSC2_uc010uvv.1_Missense_Mutation_p.E32Q|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_5'UTR NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 32 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) CAGGTCTGCAGAGGGTAAACA 0.502 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 9 89 0 0 0 0 ZNF434 54925 broad.mit.edu 37 16 3434561 3434561 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:3434561C>T uc002cuz.2 - 5 1298 c.496G>A c.(496-498)GAT>AAT p.D166N ZNF434_uc002cux.3_Missense_Mutation_p.D377N|ZNF434_uc010uwx.1_Missense_Mutation_p.D89N|ZNF434_uc002cuy.3_Missense_Mutation_p.D89N|ZNF434_uc010uwy.1_Missense_Mutation_p.D89N|ZNF434_uc010uwz.1_Missense_Mutation_p.D377N|ZNF434_uc010uxa.1_Missense_Mutation_p.D166N NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACAGTGCCATCTTCTACCTCC 0.527 NA 18 129 0 0 0 0 PDXDC1 23042 broad.mit.edu 37 16 15130131 15130131 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:15130131G>A uc002dda.3 + 23 2590 c.2366G>A c.(2365-2367)TGA>TAA p.*789* PDXDC1_uc010uzl.1_Silent_p.*774*|PDXDC1_uc010uzm.1_Silent_p.*698*|PDXDC1_uc002ddb.3_Silent_p.*762*|PDXDC1_uc010uzn.1_Silent_p.*761*|PDXDC1_uc002ddc.2_Intron NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 789 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) AGCTTAAGATGAGACTCATTG 0.478 NA 11 85 0 0 0 0 ITGAM 3684 broad.mit.edu 37 16 31282283 31282283 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:31282283C>G uc002ebq.2 + 6 534 c.436C>G c.(436-438)CAA>GAA p.Q146E ITGAM_uc002ebr.2_Missense_Mutation_p.Q146E NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 146 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 AGGGTGTCCTCAAGAGGATAG 0.453 NA 42 216 0 0 0 0 ADCY7 113 broad.mit.edu 37 16 50348223 50348223 + Silent SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:50348223C>A uc002egd.1 + 23 3145 c.2877C>A c.(2875-2877)GCC>GCA p.A959A NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 959 Cytoplasmic (Potential).|Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GGCAGCATGCCCACATTGGTG 0.622 NA 5 37 0.00116845 0.00196211 1 0 USP6 9098 broad.mit.edu 37 17 5048731 5048731 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:5048731C>T uc002gau.1 + 27 4254 c.2024C>T c.(2023-2025)TCA>TTA p.S675L USP6_uc002gav.1_Missense_Mutation_p.S675L|USP6_uc010ckz.1_Missense_Mutation_p.S358L NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 675 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 AGAAATAGATCAATTATTGTG 0.358 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 9 62 0 0 0 0 KIAA0753 9851 broad.mit.edu 37 17 6510503 6510503 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:6510503C>G uc002gde.3 - 11 2276 c.1917G>C c.(1915-1917)CAG>CAC p.Q639H KIAA0753_uc010vtd.1_Missense_Mutation_p.Q95H|KIAA0753_uc010clo.2_Missense_Mutation_p.Q340H|KIAA0753_uc010vte.1_Missense_Mutation_p.Q340H NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 639 Potential. centrosome 0 COAD - Colon adenocarcinoma(228;0.157) ATATTTACCTCTGTTTTTGCA 0.373 NA 20 167 0 0 0 0 BCL6B 255877 broad.mit.edu 37 17 6930392 6930392 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:6930392G>C uc002geg.2 + 8 1366 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q BCL6B_uc010clt.1_Missense_Mutation_p.E438Q NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 437 nucleus zinc ion binding skin(1) 1 CCACACCGGAGAGAAGCCTTA 0.632 NA 4 61 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:7578442T>C uc002gim.2 - 5 682 c.488A>G c.(487-489)TAC>TGC p.Y163C TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 163 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGACTGCTTGTAGATGGCCAT 0.622 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 50 0 0 0 0 ALOX12B 242 broad.mit.edu 37 17 7984278 7984278 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:7984278G>A uc002gjy.1 - 4 712 c.451C>T c.(451-453)CCT>TCT p.P151S uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 151 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 GGCAGGCCAGGAAGAAAGACT 0.642 NA Multiple Myeloma(8;0.094) 6 66 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10408257 10408257 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:10408257G>T uc002gmo.2 - 22 2655 c.2561C>A c.(2560-2562)GCC>GAC p.A854D uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 854 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CTTCATGTTGGCCATCTCCTT 0.443 NA 18 98 0.000175454 0.000300297 1 0 AKAP10 11216 broad.mit.edu 37 17 19850729 19850729 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:19850729C>T uc002gwo.2 - 5 1104 c.967G>A c.(967-969)GAC>AAC p.D323N AKAP10_uc002gwp.1_Missense_Mutation_p.D323N|AKAP10_uc010cqw.1_Missense_Mutation_p.D323N|AKAP10_uc010vze.1_Missense_Mutation_p.D244N NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 323 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CCTATGATGTCATTTCTCATT 0.323 NA 12 98 0 0 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927505 36927505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:36927505G>C uc002hqs.2 - 8 1309 c.828C>G c.(826-828)ATC>ATG p.I276M PIP4K2B_uc010cvp.2_5'Flank NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 276 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 TGTAGTCCATGATCTTCAGCT 0.413 NA 8 39 0 0 0 0 KRT39 390792 broad.mit.edu 37 17 39122956 39122956 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:39122956G>A uc002hvo.1 - 1 189 c.153C>T c.(151-153)CTC>CTT p.L51L KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 51 Head. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) AGGGAATTCTGAGAACGTGGC 0.498 NA 41 243 0 0 0 0 ITGA3 3675 broad.mit.edu 37 17 48148225 48148225 + Nonsense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:48148225C>T uc010dbl.2 + 5 1146 c.682C>T c.(682-684)CAG>TAG p.Q228* ITGA3_uc010dbm.2_Nonsense_Mutation_p.Q228* NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 228 FG-GAP 3.|Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 CTACATGATTCAGCGCAAGGA 0.502 NA 37 229 0 0 0 0 BZRAP1 9256 broad.mit.edu 37 17 56397485 56397485 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:56397485G>T uc002ivx.3 - 12 2350 c.1479C>A c.(1477-1479)ACC>ACA p.T493T BZRAP1_uc010dcs.2_Silent_p.T433T|BZRAP1_uc010wnt.1_Silent_p.T493T NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 493 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGAATCCAAGGTAGACTGTT 0.592 NA 9 47 3.1e-07 5.46e-07 1 0 CCDC47 57003 broad.mit.edu 37 17 61838631 61838631 + Missense_Mutation SNP A A C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:61838631A>C uc002jbs.3 - 5 964 c.628T>G c.(628-630)TCT>GCT p.S210A CCDC47_uc010ddx.2_Missense_Mutation_p.S210A|CCDC47_uc002jbt.2_Missense_Mutation_p.S210A NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 210 integral to membrane protein binding 0 ACTCGACCAGAACACCACAGG 0.433 NA 17 96 0 0 0 0 CACNG5 27091 broad.mit.edu 37 17 64876761 64876761 + Missense_Mutation SNP G G A rs145214481 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:64876761G>A uc010wqi.1 + 4 608 c.371G>A c.(370-372)CGT>CAT p.R124H CACNG5_uc002jfr.2_Missense_Mutation_p.R124H|CACNG5_uc010wqj.1_Missense_Mutation_p.R124H NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 124 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GGACACATCCGTCCCCACCGG 0.453 NA 20 129 0 0 0 0 RAC3 5881 broad.mit.edu 37 17 79991361 79991361 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:79991361C>T uc002kdf.2 + 5 440 c.334C>T c.(334-336)CTG>TTG p.L112L NM_005052 NP_005043 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho 112 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCCCATCCTCCTGGTGGGCAC 0.672 NA 4 47 0 0 0 0 RAC3 5881 broad.mit.edu 37 17 79991599 79991599 + Nonsense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:79991599C>G uc002kdf.2 + 6 579 c.473C>G c.(472-474)TCA>TGA p.S158* NM_005052 NP_005043 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho 158 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTGGAGTGCTCAGCCCTGACC 0.657 NA 9 43 0 0 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995815 19995815 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr18:19995815C>T uc002ktv.1 - 1 2064 c.1960G>A c.(1960-1962)GAA>AAA p.E654K NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 654 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CCAGTTGCTTCATTTTCAGCG 0.453 NA 24 244 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2110168 2110168 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:2110168C>T uc002luz.2 - 26 3268 c.3045G>A c.(3043-3045)CAG>CAA p.Q1015Q AP3D1_uc010dsv.2_Silent_p.Q105Q|AP3D1_uc002luy.2_Silent_p.Q974Q|AP3D1_uc002lva.2_Silent_p.Q1077Q NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 1015 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGAGCTTCTGCGCCATGA 0.642 NA 9 39 0 0 0 0 ZNF77 58492 broad.mit.edu 37 19 2934164 2934164 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:2934164C>G uc002lws.3 - 4 1092 c.961G>C c.(961-963)GAG>CAG p.E321Q NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTTTCTCTCCAGTGTGC 0.458 NA 9 91 0 0 0 0 SAFB 6294 broad.mit.edu 37 19 5667066 5667066 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:5667066G>A uc002mcf.2 + 18 2397 c.2344G>A c.(2344-2346)GAA>AAA p.E782K SAFB_uc002mcg.2_Missense_Mutation_p.E782K|SAFB_uc002mce.3_Missense_Mutation_p.E781K|SAFB_uc010xir.1_Missense_Mutation_p.E781K|SAFB_uc010xis.1_Missense_Mutation_p.E713K|SAFB_uc010xit.1_Missense_Mutation_p.E624K|SAFB_uc010xiu.1_Missense_Mutation_p.E581K NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 782 Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GCATTACCCAGAACGCCATGG 0.607 NA 14 113 0 0 0 0 CCDC151 115948 broad.mit.edu 37 19 11532486 11532486 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:11532486G>A uc002mrs.2 - 11 1592 c.1449C>T c.(1447-1449)TTC>TTT p.F483F CCDC151_uc002mrr.2_Silent_p.F418F|CCDC151_uc010dxz.2_Silent_p.F423F|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 483 ovary(1) 1 CCTTTCCCGCGAAGCGGCCGT 0.662 NA 11 65 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12951862 12951862 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:12951862C>G uc002mvm.2 + 3 358 c.230C>G c.(229-231)TCG>TGG p.S77W MAST1_uc002mvk.2_Missense_Mutation_p.S73W|MAST1_uc002mvl.2_Missense_Mutation_p.S77W NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 77 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GCCCACTTCTCGTTTGCCTCC 0.632 NA 17 77 0 0 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065144 13065144 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:13065144C>G uc002mwb.2 - 2 571 c.547G>C c.(547-549)GAG>CAG p.E183Q NM_052850 NP_443082 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma 183 Potential. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(1)|skin(1) 2 TCCTTCTTCTCTAGGTCCTGG 0.627 NA 17 130 0 0 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025612 16025612 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:16025612C>T uc002nbu.2 - 10 1245 c.1209G>A c.(1207-1209)ACG>ACA p.T403T CYP4F11_uc010eab.1_Silent_p.T403T|CYP4F11_uc002nbt.2_Silent_p.T403T NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 403 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 CAAAGTCCTGCGTGCAACATC 0.632 NA 19 106 0 0 0 0 GATAD2A 54815 broad.mit.edu 37 19 19603492 19603492 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:19603492C>G uc010xqt.1 + 4 817 c.505C>G c.(505-507)CAA>GAA p.Q169E GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.Q188E|GATAD2A_uc010xqw.1_Missense_Mutation_p.Q26E NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 169 Potential. DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCGGCAGAGTCAAATACAAAA 0.517 NA 5 54 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23544684 23544684 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:23544684G>T uc002nre.2 - 4 1210 c.1097C>A c.(1096-1098)GCT>GAT p.A366D ZNF91_uc010xrj.1_Missense_Mutation_p.A334D NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 366 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTATGATTAGCAAGGGTTGA 0.348 NA 11 42 6.4e-05 0.000109827 1 0 ZNF568 374900 broad.mit.edu 37 19 37440746 37440746 + Missense_Mutation SNP T T G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:37440746T>G uc002ofc.2 + 7 1206 c.691T>G c.(691-693)TTC>GTC p.F231V ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.F155V|ZNF568_uc010efe.2_Missense_Mutation_p.F155V|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 231 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGACAAGACTTCAGTCATAA 0.388 NA 10 57 0 0 0 0 SPINT2 10653 broad.mit.edu 37 19 38781203 38781203 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:38781203C>G uc002ohr.1 + 6 911 c.580C>G c.(580-582)CTT>GTT p.L194V SPINT2_uc002ohs.1_Missense_Mutation_p.L137V NM_021102 NP_066925 O43291 SPIT2_HUMAN serine protease inhibitor, Kunitz type, 2 194 Extracellular (Potential). cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity 0 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCCCTGCCCCTTGGCTCAAA 0.612 NA 4 25 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40364331 40364331 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:40364331C>T uc002omp.3 - 31 14319 c.14311G>A c.(14311-14313)GAA>AAA p.E4771K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4771 TIL 11. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACACAGCCTTCACGGCAGGCC 0.652 NA 10 71 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40366539 40366539 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:40366539C>T uc002omp.3 - 30 13703 c.13695G>A c.(13693-13695)CAG>CAA p.Q4565Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4565 VWFD 11. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGAGTCCAGCTGGAAAGGCA 0.602 NA 10 60 0 0 0 0 PLAUR 5329 broad.mit.edu 37 19 44160641 44160641 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:44160641T>C uc002oxf.1 - 4 692 c.462A>G c.(460-462)GAA>GAG p.E154E PLAUR_uc002oxd.1_Silent_p.E154E|PLAUR_uc002oxe.1_Silent_p.E149E|PLAUR_uc002oxg.1_Silent_p.E154E NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 154 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) CTTCTTCACCTTCCTGGATCC 0.493 NA 23 119 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52852486 52852486 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:52852486C>G uc002pyx.3 + 3 467 c.61C>G c.(61-63)CAG>GAG p.Q21E ZNF610_uc002pyy.3_Missense_Mutation_p.Q21E|ZNF610_uc002pyz.3_Missense_Mutation_p.Q21E|ZNF610_uc002pza.2_Missense_Mutation_p.Q21E NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGCTCTTCCTCAGGTAAAGTG 0.448 NA 6 34 0 0 0 0 NCR1 9437 broad.mit.edu 37 19 55421380 55421380 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:55421380G>A uc002qib.2 + 5 675 c.637G>A c.(637-639)GAC>AAC p.D213N NCR1_uc002qic.2_Missense_Mutation_p.D213N|NCR1_uc002qie.2_Missense_Mutation_p.D213N|NCR1_uc002qid.2_Missense_Mutation_p.D118N|NCR1_uc002qif.2_Missense_Mutation_p.D118N|NCR1_uc010esj.2_Missense_Mutation_p.D106N NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 213 Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TTTTCCAGGCGACATTGAGAA 0.398 NA 23 169 0 0 0 0 EPN1 29924 broad.mit.edu 37 19 56204351 56204351 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:56204351C>A uc002qlw.2 + 9 1554 c.1212C>A c.(1210-1212)TTC>TTA p.F404L EPN1_uc002qlv.2_Missense_Mutation_p.F378L|EPN1_uc010etd.2_Missense_Mutation_p.F403L|EPN1_uc002qlx.2_Missense_Mutation_p.F490L NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 404 [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.|Ala/Gly/Pro-rich. F->A: Reduces interaction with AP2B1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCGACGAGTTCTCTGACTTTG 0.701 NA 13 117 4.38e-07 7.69e-07 1 0 ALMS1 7840 broad.mit.edu 37 2 73828456 73828456 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:73828456G>A uc002sje.1 + 21 12121 c.12010G>A c.(12010-12012)GAG>AAG p.E4004K ALMS1_uc002sjf.1_Missense_Mutation_p.E3960K|ALMS1_uc002sjh.1_Missense_Mutation_p.E3390K NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4002 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GCCACTGCGGGAGCAGAACTG 0.582 NA 18 106 0 0 0 0 PROM2 150696 broad.mit.edu 37 2 95941259 95941259 + Splice_Site SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:95941259G>T uc002suh.1 + 2 427 c.294_splice c.e2+1 p.E98_splice PROM2_uc002sui.2_Splice_Site_p.E98_splice|PROM2_uc002suj.2_Splice_Site|PROM2_uc002suk.2_Splice_Site_p.E98_splice|PROM2_uc002sul.2_Splice_Site NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GGTGAATGAGGTGAGCAAGCT 0.602 NA 5 45 0.00116845 0.00196211 1 0 PSD4 23550 broad.mit.edu 37 2 113943603 113943603 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:113943603G>C uc002tjc.2 + 5 1582 c.1399G>C c.(1399-1401)GAG>CAG p.E467Q PSD4_uc002tjd.2_Missense_Mutation_p.E88Q|PSD4_uc002tje.2_Missense_Mutation_p.E438Q|PSD4_uc002tjf.2_Missense_Mutation_p.E88Q NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 467 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 ATCGTCCCAGGAGGGCAGCCC 0.617 NA 8 59 0 0 0 0 TMEM177 80775 broad.mit.edu 37 2 120439337 120439337 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:120439337G>C uc010flg.1 + 2 1381 c.908G>C c.(907-909)AGG>ACG p.R303T TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.R303T|TMEM177_uc002tmd.2_Missense_Mutation_p.R303T|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 303 integral to membrane ovary(1) 1 Colorectal(110;0.196) CAGATGTGGAGGGGGATGCTC 0.577 NA 9 80 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166854606 166854606 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:166854606A>G uc010zcz.1 - 23 4403 c.4385T>C c.(4384-4386)TTC>TCC p.F1462S SCN1A_uc002udo.3_Missense_Mutation_p.F1342S|SCN1A_uc010fpk.2_Missense_Mutation_p.F1314S NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1473 Helical; Name=S6 of repeat III; (By similarity).|III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTTCAAGGTGAAGAAGGACCC 0.343 NA 4 39 0 0 0 0 TTC30A 92104 broad.mit.edu 37 2 178481760 178481760 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:178481760T>C uc002ulo.2 - 1 1935 c.1670A>G c.(1669-1671)AAA>AGA p.K557R NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 557 TPR 8. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ATAGTTTCCTTTGGCACAATA 0.383 NA 4 242 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179440094 179440094 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:179440094C>G uc010zfg.1 - 275 63285 c.63061G>C c.(63061-63063)GAA>CAA p.E21021Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14716Q|TTN_uc010zfi.1_Missense_Mutation_p.E14649Q|TTN_uc010zfj.1_Missense_Mutation_p.E14524Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21948 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAACACATTCTAACCCTTTC 0.507 NA 11 67 0 0 0 0 CWC22 57703 broad.mit.edu 37 2 180838488 180838488 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:180838488G>A uc010frh.1 - 7 923 c.623C>T c.(622-624)TCT>TTT p.S208F CWC22_uc002unp.2_Missense_Mutation_p.S208F NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 208 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding 0 GAAGATTGGAGAAGCACTCTG 0.328 NA 7 50 0 0 0 0 SLC4A3 6508 broad.mit.edu 37 2 220496825 220496825 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:220496825G>A uc002vmp.3 + 7 1216 c.947G>A c.(946-948)CGG>CAG p.R316Q SLC4A3_uc002vmn.2_Missense_Mutation_p.R343Q|SLC4A3_uc002vmo.3_Missense_Mutation_p.R343Q|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 316 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCTGGACCGGAGGCCTCAT 0.652 NA 4 54 0 0 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602064 234602064 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:234602064C>G uc002vuv.3 + 1 553 c.414C>G c.(412-414)TTC>TTG p.F138L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.F138L NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 138 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCCTGAACTTCTTTAAGGAGA 0.488 NA 10 73 0 0 0 0 PSMF1 9491 broad.mit.edu 37 20 1115772 1115772 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:1115772A>G uc002wel.3 + 5 542 c.374A>G c.(373-375)AAG>AGG p.K125R PSMF1_uc010zpo.1_Missense_Mutation_p.K37R|PSMF1_uc002wem.3_Missense_Mutation_p.K125R|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Missense_Mutation_p.K125R|PSMF1_uc002wep.3_Missense_Mutation_p.K76R NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 125 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 AGGACCTACAAGAACAGTGAG 0.552 NA 7 55 0 0 0 0 BPIL1 80341 broad.mit.edu 37 20 31608358 31608358 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:31608358C>A uc002wyj.2 + 13 1353 c.1159C>A c.(1159-1161)CTC>ATC p.L387I NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 387 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 GGATGTCCAGCTCACGGTGGC 0.617 NA 9 93 0.000673444 0.00113894 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37524339 37524339 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:37524339G>C uc002xje.2 + 4 642 c.453G>C c.(451-453)AAG>AAC p.K151N PPP1R16B_uc010ggc.2_Missense_Mutation_p.K151N NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 151 ANK 2. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) ACCTGGTGAAGATCCTCGTTC 0.498 NA 5 25 0 0 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597525 62597525 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:62597525G>A uc002yhl.1 - 5 1057 c.1003C>T c.(1003-1005)CGT>TGT p.R335C NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCTGTGGCACGAGGTGCTTTG 0.582 NA 9 62 0 0 0 0 CHEK2 11200 broad.mit.edu 37 22 29121060 29121060 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:29121060T>C uc003adu.1 - 4 569 c.497A>G c.(496-498)AAT>AGT p.N166S CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N166S|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.N209S|CHEK2_uc003adv.1_Missense_Mutation_p.N166S|CHEK2_uc003adw.1_Missense_Mutation_p.N166S|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.N166S|CHEK2_uc003adz.1_Intron NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 166 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 AAAGGTTCCATTGCCACTGTG 0.353 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 6 76 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652485 46652485 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46652485C>T uc003bhh.2 - 1 6735 c.6735G>A c.(6733-6735)GGG>GGA p.G2245G NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 2245 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCATTTTCTTCCCGTTGATGT 0.473 NA 10 94 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653078 46653078 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46653078G>C uc003bhh.2 - 1 6142 c.6142C>G c.(6142-6144)CAC>GAC p.H2048D NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 2048 Helical; (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTCATAATGTGATCTACCTGA 0.438 NA 6 59 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653873 46653873 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46653873C>T uc003bhh.2 - 1 5347 c.5347G>A c.(5347-5349)GAA>AAA p.E1783K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1783 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GACGAGCTTTCAGGAAGAAAT 0.423 NA 19 172 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653935 46653935 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46653935C>T uc003bhh.2 - 1 5285 c.5285G>A c.(5284-5286)AGA>AAA p.R1762K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1762 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTTTAGCCATCTATAGATGTC 0.423 NA 17 115 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654045 46654045 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654045C>T uc003bhh.2 - 1 5175 c.5175G>A c.(5173-5175)TTG>TTA p.L1725L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1725 Helical; (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CGATAAGGATCAACAGAAGGG 0.383 NA 8 52 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654120 46654120 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654120C>T uc003bhh.2 - 1 5100 c.5100G>A c.(5098-5100)AAG>AAA p.K1700K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1700 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGATCCTCTTCTTTCTTTTGA 0.418 NA 7 82 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654124 46654124 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654124C>T uc003bhh.2 - 1 5096 c.5096G>A c.(5095-5097)AGA>AAA p.R1699K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1699 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCTCTTCTTTCTTTTGAATAT 0.418 NA 7 87 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654251 46654251 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654251C>T uc003bhh.2 - 1 4969 c.4969G>A c.(4969-4971)GAG>AAG p.E1657K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1657 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACCTGATCTCAGTATATTTA 0.438 NA 10 80 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654407 46654407 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654407C>G uc003bhh.2 - 1 4813 c.4813G>C c.(4813-4815)GAC>CAC p.D1605H NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1605 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTGACTTGTCATAGCCGTAA 0.393 NA 6 53 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654584 46654584 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654584C>T uc003bhh.2 - 1 4636 c.4636G>A c.(4636-4638)GAT>AAT p.D1546N NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1546 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCCTGATCATCTTCTATGTTG 0.483 NA 33 233 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654926 46654926 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654926C>T uc003bhh.2 - 1 4294 c.4294G>A c.(4294-4296)GAA>AAA p.E1432K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1432 Helical; (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAGACACTTTCAATTCCTATC 0.348 NA 8 61 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654948 46654948 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654948C>T uc003bhh.2 - 1 4272 c.4272G>A c.(4270-4272)ATG>ATA p.M1424I NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1424 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCATTGATCTCATGTATTTCC 0.348 NA 8 60 0 0 0 0 CPT1B 1375 broad.mit.edu 37 22 51010730 51010730 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:51010730C>G uc003bmk.3 - 11 1522 c.1360G>C c.(1360-1362)GAC>CAC p.D454H CPT1B_uc003bml.2_Missense_Mutation_p.D454H|CPT1B_uc003bmm.2_Missense_Mutation_p.D454H|CPT1B_uc003bmo.2_Missense_Mutation_p.D454H|CPT1B_uc011asa.1_Missense_Mutation_p.D420H|CPT1B_uc003bmn.2_Missense_Mutation_p.D454H|CPT1B_uc011asb.1_Missense_Mutation_p.D373H|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.D251H|uc003bmr.1_RNA NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 454 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AAGGATTTGTCAAACCACCTG 0.443 NA 6 38 0 0 0 0 PBRM1 55193 broad.mit.edu 37 3 52623229 52623229 + Nonsense_Mutation SNP G G C rs141067977 by1000genomes TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:52623229G>C uc003des.2 - 18 2834 c.2822C>G c.(2821-2823)TCA>TGA p.S941* PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.S941*|PBRM1_uc003der.2_Nonsense_Mutation_p.S909*|PBRM1_uc003det.2_Nonsense_Mutation_p.S956*|PBRM1_uc003deu.2_Nonsense_Mutation_p.S956*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.S941*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.S941*|PBRM1_uc003dey.2_Nonsense_Mutation_p.S941*|PBRM1_uc003dez.1_Nonsense_Mutation_p.S940*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.S853*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.S287* NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 941 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATGTAAGCCTGAGAGGCCTGC 0.428 NA Mis|N|F|S|D|O clear cell renal carcinoma|breast 13 110 0 0 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132920 64132920 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:64132920G>C uc003dmf.2 - 7 1832 c.1246C>G c.(1246-1248)CTG>GTG p.L416V NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 416 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGGAGCTGCAGAGGGCTCTGG 0.612 NA 21 93 0 0 0 0 PROS1 5627 broad.mit.edu 37 3 93617301 93617301 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:93617301C>G uc003drb.3 - 8 1181 c.840G>C c.(838-840)AAG>AAC p.K280N PROS1_uc010hoo.2_Missense_Mutation_p.K149N|PROS1_uc003dqz.3_Missense_Mutation_p.K149N NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 280 EGF-like 4; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CCTCACAACTCTTCTGATCTT 0.383 NA 5 64 0 0 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134182 119134182 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:119134182G>A uc003ecj.3 + 12 3938 c.3406G>A c.(3406-3408)GAG>AAG p.E1136K NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1136 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GCAGGTCTCTGAGCCAGGAGA 0.532 NA 6 74 0 0 0 0 KBTBD12 166348 broad.mit.edu 37 3 127646718 127646718 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:127646718G>A uc010hsr.2 + 2 1185 c.1182G>A c.(1180-1182)ATG>ATA p.M394I KBTBD12_uc003ejy.3_Missense_Mutation_p.M1I|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.M394I NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 394 Kelch 1. ovary(1) 1 GAGGACAGATGAAAATTAAAA 0.393 NA 20 146 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452968 130452968 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:130452968G>C uc003enj.2 - 4 1455 c.874C>G c.(874-876)CAG>GAG p.Q292E NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 292 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TGAATCATCTGAGTTACCTAT 0.348 NA 9 65 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463505 130463505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:130463505G>C uc003enj.2 - 2 1139 c.558C>G c.(556-558)TTC>TTG p.F186L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 186 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 ATGTGTCAAAGAAATAATTGA 0.408 NA 11 48 0 0 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163924 141163924 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:141163924G>T uc003etw.2 + 8 3676 c.2694G>T c.(2692-2694)GAG>GAT p.E898D ZBTB38_uc010hun.2_Missense_Mutation_p.E895D|ZBTB38_uc010huo.2_Missense_Mutation_p.E898D|ZBTB38_uc003ety.2_Missense_Mutation_p.E898D|ZBTB38_uc010hup.2_Missense_Mutation_p.E899D NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 898 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AGTGCATGGAGATGAGTGAAG 0.522 NA 16 49 6.72e-11 1.21e-10 1 0 AGTR1 185 broad.mit.edu 37 3 148459824 148459824 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:148459824G>A uc003ewg.2 + 4 1448 c.1002G>A c.(1000-1002)ATG>ATA p.M334I AGTR1_uc003ewh.2_Missense_Mutation_p.M334I|AGTR1_uc003ewi.2_Missense_Mutation_p.M334I|AGTR1_uc003ewj.2_Missense_Mutation_p.M334I|AGTR1_uc003ewk.2_Missense_Mutation_p.M334I NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 334 Cytoplasmic (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CAACAAAAATGAGCACGCTTT 0.403 NA 7 44 0 0 0 0 SI 6476 broad.mit.edu 37 3 164776814 164776814 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:164776814C>G uc003fei.2 - 12 1397 c.1335G>C c.(1333-1335)GAG>GAC p.E445D NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 445 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTTCCCCTCTCATAGGTTG 0.363 NA HNSCC(35;0.089) 3 48 0 0 0 0 HTR3C 170572 broad.mit.edu 37 3 183778119 183778119 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:183778119C>G uc003fmk.2 + 9 1357 c.1323C>G c.(1321-1323)GTC>GTG p.V441V NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 441 Helical; Name=4; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCCTTACTGTCATTGTCCTCT 0.557 NA 24 183 0 0 0 0 AP2M1 1173 broad.mit.edu 37 3 183896841 183896841 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:183896841G>C uc011bqx.1 + 3 428 c.271G>C c.(271-273)GCC>CCC p.A91P AP2M1_uc003fmw.2_Missense_Mutation_p.A91P|AP2M1_uc003fmx.2_Missense_Mutation_p.A91P|AP2M1_uc003fmy.2_Missense_Mutation_p.A91P|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 91 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGTGATGGCTGCCTACTTTGG 0.522 NA 3 130 0 0 0 0 GP5 2814 broad.mit.edu 37 3 194118031 194118031 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:194118031C>G uc003ftv.1 - 2 1012 c.981G>C c.(979-981)CTG>CTC p.L327L NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 327 Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GAAGCGCGCTCAGCCGCGGGC 0.726 NA 3 22 0 0 0 0 KIAA1530 57654 broad.mit.edu 37 4 1360143 1360143 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:1360143C>T uc003gde.3 + 8 1659 c.1212C>T c.(1210-1212)GAC>GAT p.D404D KIAA1530_uc010ibv.2_Translation_Start_Site NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 404 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) AAGATGAGGACGATGAGGACT 0.587 NA 20 163 0 0 0 0 TBC1D1 23216 broad.mit.edu 37 4 38134714 38134714 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:38134714A>G uc003gtb.2 + 19 3485 c.3142A>G c.(3142-3144)ATG>GTG p.M1048V TBC1D1_uc011byd.1_Missense_Mutation_p.M1039V|TBC1D1_uc010ifd.2_Missense_Mutation_p.M835V|TBC1D1_uc003gtd.2_Missense_Mutation_p.M60V NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 1048 nucleus Rab GTPase activator activity ovary(1) 1 GGTATTTGAAATGGACATCGC 0.423 NA 8 51 0 0 0 0 PDS5A 23244 broad.mit.edu 37 4 39910122 39910122 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:39910122T>C uc003guv.3 - 11 1666 c.1126A>G c.(1126-1128)ATT>GTT p.I376V PDS5A_uc010ifo.2_Missense_Mutation_p.I336V|PDS5A_uc003guw.3_Missense_Mutation_p.I376V NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 376 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TCATGACGAATAGCTTCTTCT 0.353 NA 16 100 0 0 0 0 MUC7 4589 broad.mit.edu 37 4 71346858 71346858 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:71346858C>A uc011cat.1 + 4 685 c.397C>A c.(397-399)CCC>ACC p.P133T MUC7_uc011cau.1_Missense_Mutation_p.P133T|MUC7_uc003hfj.2_Missense_Mutation_p.P133T|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 133 Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) GACTTTTCTTCCCCAGAATGC 0.448 NA 13 106 4.38e-07 7.69e-07 1 0 KIAA1109 84162 broad.mit.edu 37 4 123230492 123230492 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:123230492A>G uc003ieh.2 + 57 10170 c.10125A>G c.(10123-10125)GCA>GCG p.A3375A KIAA1109_uc003iel.1_Silent_p.A1310A NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3375 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCATCACTGCATGCTCTTCAG 0.378 NA 11 62 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155254167 155254167 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:155254167C>T uc003inw.2 - 9 1696 c.1696G>A c.(1696-1698)GCC>ACC p.A566T DCHS2_uc003inx.2_Missense_Mutation_p.A1065T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 566 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACCAGCAGGGCTGCCTGAGGA 0.607 NA 9 84 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187541760 187541760 + Nonsense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:187541760C>A uc003izf.2 - 10 6168 c.5980G>T c.(5980-5982)GAG>TAG p.E1994* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1994 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTTTCGGCCTCGGTGGAATTC 0.418 NA HNSCC(5;0.00058) 101 237 6.66e-36 1.21e-35 1 0 GCNT4 51301 broad.mit.edu 37 5 74325189 74325189 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:74325189T>C uc003kdn.2 - 1 1536 c.674A>G c.(673-675)AAC>AGC p.N225S NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 225 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CCCACACAAGTTGATAACATA 0.418 NA 4 78 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79030301 79030301 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:79030301C>G uc003kgc.2 + 2 5785 c.5713C>G c.(5713-5715)CAA>GAA p.Q1905E NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1905 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTGGCTAGTCAACACGAACA 0.468 NA 7 42 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90136535 90136535 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:90136535G>C uc003kju.2 + 78 16848 c.16752G>C c.(16750-16752)GAG>GAC p.E5584D GPR98_uc003kjt.2_Missense_Mutation_p.E3290D|GPR98_uc003kjw.2_Missense_Mutation_p.E1245D NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5584 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAACGCCAGAGACAGGATCTT 0.428 NA 28 190 0 0 0 0 IRF1 3659 broad.mit.edu 37 5 131819736 131819736 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:131819736G>A uc003kxa.2 - 10 1119 c.885C>T c.(883-885)TTC>TTT p.F295F C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Silent_p.F295F NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 295 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TCAGATCTGTGAAGACACGCT 0.582 NA 5 59 0 0 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139885401 139885401 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:139885401G>C uc003lfs.1 + 18 3479 c.3355G>C c.(3355-3357)GAA>CAA p.E1119Q ANKHD1_uc003lfq.1_Missense_Mutation_p.E1138Q|ANKHD1_uc003lfr.2_Missense_Mutation_p.E1119Q|ANKHD1_uc003lft.1_Missense_Mutation_p.E330Q|ANKHD1_uc003lfu.1_Missense_Mutation_p.E599Q|ANKHD1_uc003lfv.1_Missense_Mutation_p.E196Q NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1119 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACAGTCTGAACGAACTAA 0.393 NA 17 149 0 0 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357721 149357721 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:149357721G>T uc003lrh.2 + 2 774 c.506G>T c.(505-507)TGC>TTC p.C169F NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 169 Helical; (Potential). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGAGTACTGTGCCTTATGATT 0.448 NA 18 96 3.41e-10 6.12e-10 1 0 MAS1L 116511 broad.mit.edu 37 6 29454874 29454874 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:29454874G>A uc011dlq.1 - 1 806 c.806C>T c.(805-807)TCG>TTG p.S269L NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 269 Helical; Name=6; (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 CATGGGGGCCGAGATCTGCAC 0.512 NA 7 37 0 0 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974913 32974913 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:32974913G>A uc003ocr.2 - 4 769 c.693C>T c.(691-693)GGC>GGT p.G231G HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 231 Helical; (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 CCACGAGGAAGCCCACCAGGC 0.627 NA 17 107 0 0 0 0 KLHL31 401265 broad.mit.edu 37 6 53516703 53516703 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:53516703A>G uc003pcb.3 - 3 1739 c.1598T>C c.(1597-1599)CTC>CCC p.L533P uc003pcc.1_Missense_Mutation_p.E32G NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 533 Kelch 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) CTCCACGGTGAGCACGTCCAC 0.736 NA 3 17 0 0 0 0 TRMT11 60487 broad.mit.edu 37 6 126334221 126334221 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:126334221C>T uc003qam.2 + 11 1234 c.1113C>T c.(1111-1113)GTC>GTT p.V371V TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.V371V NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 371 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) GAAGACTAGTCTATTGGTTAC 0.343 NA 7 30 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157505453 157505453 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:157505453A>G uc003qqn.2 + 13 3532 c.3380A>G c.(3379-3381)TAT>TGT p.Y1127C ARID1B_uc003qqo.2_Missense_Mutation_p.Y1087C|ARID1B_uc003qqp.2_Missense_Mutation_p.Y1074C|ARID1B_uc010kjl.2_Missense_Mutation_p.Y272C NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1132 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AAAAAGCAGTATATTCAGTAC 0.517 NA 13 53 0 0 0 0 TULP4 56995 broad.mit.edu 37 6 158924402 158924402 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:158924402C>T uc003qrf.2 + 13 5064 c.3707C>T c.(3706-3708)TCC>TTC p.S1236F TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1236 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCAGCCTCTCCTATTGCACC 0.607 NA 14 85 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21775391 21775391 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:21775391C>T uc003svc.2 + 47 7626 c.7595C>T c.(7594-7596)GCA>GTA p.A2532V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2532 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GACACATTGGCAAGTCTCTCT 0.413 NA Kartagener_syndrome 9 88 0 0 0 0 BMPER 168667 broad.mit.edu 37 7 34125426 34125426 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:34125426C>G uc011kap.1 + 13 1581 c.1467C>G c.(1465-1467)CTC>CTG p.L489L NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 489 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CGCCGCATCTCAAGGGCAAGC 0.433 NA 9 43 0 0 0 0 SUN3 256979 broad.mit.edu 37 7 48035654 48035654 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:48035654C>G uc003tof.2 - 8 764 c.667G>C c.(667-669)GAA>CAA p.E223Q SUN3_uc010kyq.2_Missense_Mutation_p.E123Q|SUN3_uc003tog.2_Missense_Mutation_p.E223Q|SUN3_uc011kcf.1_Missense_Mutation_p.E211Q NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 223 SUN. integral to membrane central_nervous_system(1) 1 GGAGGCATTTCATGATTTAGG 0.284 NA 11 73 0 0 0 0 ELN 2006 broad.mit.edu 37 7 73466086 73466086 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:73466086G>C uc003tzw.2 + 16 897 c.806G>C c.(805-807)GGA>GCA p.G269A RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.G238A|ELN_uc003tzn.2_Missense_Mutation_p.G269A|ELN_uc003tzz.2_Missense_Mutation_p.G233A|ELN_uc003tzo.2_Missense_Mutation_p.G255A|ELN_uc003tzp.2_Missense_Mutation_p.G225A|ELN_uc003tzq.2_Missense_Mutation_p.G152A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.G269A|ELN_uc003tzt.2_Missense_Mutation_p.G274A|ELN_uc003tzu.2_Missense_Mutation_p.G274A|ELN_uc003tzv.2_Missense_Mutation_p.G259A|ELN_uc003tzx.2_Missense_Mutation_p.G259A|ELN_uc011kff.1_Missense_Mutation_p.G269A|ELN_uc003tzy.2_Missense_Mutation_p.G264A NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 269 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) ACAGGTGCTGGAGCAGCCGGA 0.597 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome OREG0018112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964913 88964913 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:88964913G>A uc011khi.1 + 4 3155 c.2617G>A c.(2617-2619)GAG>AAG p.E873K NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 873 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAGAAATCAAGAGTCTTTGGG 0.428 NA HNSCC(36;0.09) 8 60 0 0 0 0 CCDC132 55610 broad.mit.edu 37 7 92987685 92987685 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:92987685C>G uc003umo.2 + 28 2960 c.2832C>G c.(2830-2832)ATC>ATG p.I944M CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.I914M|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.I664M NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 944 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GATCCCATATCAATAAGAAAG 0.383 NA 12 77 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100345255 100345255 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:100345255A>G uc003uwj.2 + 9 1179 c.1014A>G c.(1012-1014)GGA>GGG p.G338G ZAN_uc003uwk.2_Silent_p.G338G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 338 MAM 2.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGCCGTGGGACGGATACAGG 0.448 NA 3 58 0 0 0 0 GPR37 2861 broad.mit.edu 37 7 124404013 124404013 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:124404013T>C uc003vli.2 - 1 1669 c.1018A>G c.(1018-1020)ATA>GTA p.I340V NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 340 Helical; Name=3; (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 ATTACCTCTATATAGGGCACG 0.498 NA 34 211 0 0 0 0 POT1 25913 broad.mit.edu 37 7 124503478 124503479 + Missense_Mutation DNP GC GC AA TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:124503478_124503479GC>AA uc003vlm.2 - 8 1072_1073 c.471_472GC>TT c.(469-474)CAGCCA>CATTCA p.157_158QP>HS POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.26_27QP>HS|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 157_158 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TACTGCATTGGCTGAACATCAC 0.406 NA 11 79 0 0 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138429966 138429966 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:138429966G>C uc003vuf.2 - 13 1618 c.1380C>G c.(1378-1380)ATC>ATG p.I460M ATP6V0A4_uc003vug.2_Missense_Mutation_p.I460M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.I460M NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 460 Helical; (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 AACCCGTGTAGATGGAGAAGA 0.488 NA 9 88 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73849039 73849039 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:73849039C>T uc003xzb.2 + 3 2037 c.1449C>T c.(1447-1449)GAC>GAT p.D483D NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 483 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) ACTCCGCCGACGATAATCACC 0.512 NA 13 111 0 0 0 0 RBM12B 389677 broad.mit.edu 37 8 94746869 94746869 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:94746869A>G uc003yfz.2 - 3 1963 c.1770T>C c.(1768-1770)CCT>CCC p.P590P NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 590 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCTCAGAAGGCCGCCTGA 0.617 NA 21 81 0 0 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620188 144620188 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:144620188C>T uc003yyd.2 - 2 1378 c.1349G>A c.(1348-1350)AGA>AAA p.R450K NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 450 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCTGCTGCGTCTCCGGATGAT 0.617 NA 9 85 0 0 0 0 ZNF7 7553 broad.mit.edu 37 8 146067676 146067676 + Nonsense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:146067676C>G uc003zeg.3 + 5 1321 c.1184C>G c.(1183-1185)TCA>TGA p.S395* ZNF7_uc010mge.2_Nonsense_Mutation_p.S406*|ZNF7_uc011lln.1_Nonsense_Mutation_p.S299*|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Nonsense_Mutation_p.S299*|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 395 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) CTAAAAGCCTCAGACAGTCCA 0.493 NA 7 79 0 0 0 0 KANK1 23189 broad.mit.edu 37 9 711776 711776 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:711776G>A uc003zgl.1 + 7 1659 c.1010G>A c.(1009-1011)CGG>CAG p.R337Q KANK1_uc003zgm.2_Missense_Mutation_p.R337Q|KANK1_uc003zgn.1_Missense_Mutation_p.R337Q|KANK1_uc003zgo.1_Missense_Mutation_p.R337Q|KANK1_uc003zgp.1_Missense_Mutation_p.R337Q|KANK1_uc003zgq.2_Missense_Mutation_p.R179Q|KANK1_uc003zgr.1_Missense_Mutation_p.R179Q|KANK1_uc003zgs.1_Missense_Mutation_p.R179Q NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 337 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CAGCTCTCCCGGGCCCGAAGA 0.537 NA 8 91 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32632974 32632974 + Silent SNP G G A rs146604611 byFrequency TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:32632974G>A uc003zrg.1 - 1 2694 c.2604C>T c.(2602-2604)TGC>TGT p.C868C uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 868 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGAAGTCAGCGCAGAGCTTTA 0.468 NA 20 154 0 0 0 0 UNC13B 10497 broad.mit.edu 37 9 35231142 35231142 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:35231142G>A uc003zwq.2 + 3 370 c.78G>A c.(76-78)CTG>CTA p.L26L UNC13B_uc010mkl.1_Silent_p.L26L|UNC13B_uc003zwr.2_Silent_p.L26L NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 26 C2 1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATGTGACCCTGAAAGTACAGA 0.393 NA 5 33 0 0 0 0 ZNF782 158431 broad.mit.edu 37 9 99581236 99581236 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:99581236G>A uc004awp.1 - 6 1350 c.1069C>T c.(1069-1071)CAG>TAG p.Q357* ZNF782_uc011lup.1_Nonsense_Mutation_p.Q225* NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 357 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) TGAACCTTCTGATGTACACTG 0.418 NA 31 200 0 0 0 0 RABEPK 10244 broad.mit.edu 37 9 127990196 127990196 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:127990196G>T uc004bpi.2 + 7 707 c.534G>T c.(532-534)CTG>CTT p.L178L RABEPK_uc004bpj.2_Silent_p.L127L|RABEPK_uc004bpk.2_Silent_p.L178L|RABEPK_uc004bpl.1_Silent_p.L127L|RABEPK_uc004bpm.2_Silent_p.L178L NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 178 Kelch 3. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TAGACACTCTGACCTGGTCAC 0.483 NA 10 68 9.7e-10 1.74e-09 1 0 SLC25A25 114789 broad.mit.edu 37 9 130863479 130863479 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:130863479G>C uc004bte.2 + 2 293 c.264G>C c.(262-264)AAG>AAC p.K88N SLC25A25_uc004btb.2_Missense_Mutation_p.K122N|SLC25A25_uc004btc.2_Missense_Mutation_p.K108N|SLC25A25_uc004btd.2_Missense_Mutation_p.K108N|SLC25A25_uc004btf.2_5'UTR NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 88 EF-hand 2.|Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 TGGTGTTTAAGAGTTTGGACA 0.512 NA 13 130 0 0 0 0 GFI1B 8328 broad.mit.edu 37 9 135862790 135862790 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:135862790G>C uc004ccg.2 + 3 373 c.222G>C c.(220-222)AGG>AGC p.R74S GFI1B_uc010mzy.2_Missense_Mutation_p.R74S NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 74 cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) ACTTGGCCAGGATGGCCCCGG 0.617 NA 10 35 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412690 139412690 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:139412690G>A uc004chz.2 - 7 1154 c.1154C>T c.(1153-1155)TCC>TTC p.S385F NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 385 Extracellular (Potential).|EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCGCAGTTGGAGCCCTCGTT 0.672 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 7 9 0 0 0 0 ARSD 414 broad.mit.edu 37 X 2825395 2825395 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:2825395T>C uc004cqy.2 - 10 1775 c.1699A>G c.(1699-1701)ATC>GTC p.I567V ARSD_uc004cqz.1_RNA NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 567 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCCACAGGATGTTGCTCATG 0.617 NA 6 27 0 0 0 0 BEND2 139105 broad.mit.edu 37 X 18192280 18192280 + Silent SNP A A C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:18192280A>C uc004cyj.3 - 12 2005 c.1851T>G c.(1849-1851)TCT>TCG p.S617S BEND2_uc010nfb.2_Silent_p.S526S NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 617 ovary(3)|kidney(1)|central_nervous_system(1) 5 GAAACATCCAAGAACAGCCTT 0.438 NA 25 58 0 0 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19702122 19702122 + Missense_Mutation SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:19702122T>A uc004czm.2 - 6 861 c.545A>T c.(544-546)GAG>GTG p.E182V SH3KBP1_uc004czl.2_Missense_Mutation_p.E145V NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 182 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 CCCATCACTCTCGGAGCCTGT 0.537 NA 8 38 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53617986 53617986 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:53617986G>A uc004dsp.2 - 34 4471 c.4069C>T c.(4069-4071)CCT>TCT p.P1357S HUWE1_uc004dsn.2_Missense_Mutation_p.P182S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1357 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ATGATTGGAGGAGGGTGGGTT 0.488 NA 4 20 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53619384 53619384 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:53619384G>C uc004dsp.2 - 33 4348 c.3946C>G c.(3946-3948)CAA>GAA p.Q1316E HUWE1_uc004dsn.2_Missense_Mutation_p.Q141E NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1316 UBA. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TGGTTGACTTGAGGTTCCCGG 0.537 NA 18 52 0 0 0 0 ZMAT1 84460 broad.mit.edu 37 X 101152892 101152892 + Missense_Mutation SNP A A T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:101152892A>T uc011mrl.1 - 5 765 c.454T>A c.(454-456)TTA>ATA p.L152I ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nucleus zinc ion binding ovary(1) 1 TCCTCCATTAATTGCTTCAGT 0.403 NA 10 27 0 0 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135862907 135862907 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:135862907G>A uc004fab.2 - 1 597 c.135C>T c.(133-135)ATC>ATT p.I45I NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 45 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) TGAGTCTGTTGATCAGTTTGC 0.433 NA 9 114 0 0 0 0 DAAM1 23002 broad.mit.edu 37 14 59792758 59792758 + Frame_Shift_Del DEL T T - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:59792758delT uc001xdz.1 + 10 1262 c.1137delT c.(1135-1137)CATfs p.H379fs DAAM1_uc001xea.1_Frame_Shift_Del_p.H379fs|DAAM1_uc001xeb.1_Frame_Shift_Del_p.H379fs NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 379 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTTACCCGCATTTCATGTCCA 0.443 NA 7 50 --- --- --- --- NA NA NA NA THRA 7067 broad.mit.edu 37 17 38241015 38241022 + Frame_Shift_Del DEL CATCGCAG CATCGCAG - rs11545238 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:38241015_38241022delCATCGCAG uc002htw.2 + 6 1006_1013 c.523_530delCATCGCAG c.(523-531)CATCGCAGCfs p.H175fs THRA_uc010cwp.1_Frame_Shift_Del_p.H175fs|THRA_uc002htv.2_Frame_Shift_Del_p.H175fs|THRA_uc002htx.2_Frame_Shift_Del_p.H175fs NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 175_177 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CACAGAGGCCCATCGCAGCACCAATGCC 0.601 NA 14 186 --- --- --- --- NA NA NA NA ASXL1 171023 broad.mit.edu 37 20 31022294 31022294 + Frame_Shift_Del DEL A A - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:31022294delA uc002wxs.2 + 12 2205 c.1779delA c.(1777-1779)ATAfs p.I593fs ASXL1_uc010geb.2_Frame_Shift_Del_p.I484fs NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 593 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CTTACCAGATATGCCCCCGGA 0.532 NA F|N|Mis MDS|CMML 11 91 --- --- --- --- NA NA NA NA IL1RAP 3556 broad.mit.edu 37 3 190362120 190362121 + Frame_Shift_Ins INS - - A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:190362120_190362121insA uc003fsm.1 + 10 1341_1342 c.1135_1136insA c.(1135-1137)CATfs p.H379fs IL1RAP_uc010hzg.1_Frame_Shift_Ins_p.H379fs|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Frame_Shift_Ins_p.H379fs|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Frame_Shift_Ins_p.H379fs NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 379 Helical; (Potential). inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TGTTGTTTACCATGTTTACTGG 0.416 NA 20 47 --- --- --- --- NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139402819 139402820 + Frame_Shift_Del DEL CA CA - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:139402819_139402820delCA uc004chz.2 - 20 3189_3190 c.3189_3190delTG c.(3187-3192)TGTGACfs p.C1063fs NOTCH1_uc004cia.1_Frame_Shift_Del_p.C293fs NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1063_1064 Extracellular (Potential).|EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCGAGGAGTCACACCAGTGCA 0.658 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 7 237 --- --- --- --- NA NA NA NA TCEAL3 85012 broad.mit.edu 37 X 102864119 102864120 + Frame_Shift_Ins INS - - A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:102864119_102864120insA uc004ekq.2 + 3 389_390 c.127_128insA c.(127-129)GAAfs p.E43fs TCEAL3_uc004ekr.2_Frame_Shift_Ins_p.E43fs NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 43 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 ggggaagacagaatgcgaggga 0.149 NA 16 33 --- --- --- --- NA NA NA NA